Gene
stxbp1b
- ID
- ZDB-GENE-060531-166
- Name
- syntaxin binding protein 1b
- Symbol
- stxbp1b Nomenclature History
- Previous Names
-
- si:rp71-10d23.3
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to be involved in vesicle docking involved in exocytosis. Used to study early infantile epileptic encephalopathy. Human ortholog(s) of this gene implicated in West syndrome and early infantile epileptic encephalopathy 4. Is expressed in brain and retina. Orthologous to human STXBP1 (syntaxin binding protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 4 | Alliance | Developmental and epileptic encephalopathy 4 | 612164 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| epilepsy | stxbp1bs3038/s3038 | standard conditions | Griffin et al., 2021 |
| early infantile epileptic encephalopathy | stxbp1bs3001/s3001 (WIK) | standard conditions | Grone et al., 2016 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Sec1-like, domain 1 | Sec1-like, domain 2 | Sec1-like, domain 3a | Sec1-like protein | Sec1-like superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A2BGE0
|
605 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
stxbp1b-201
(1)
|
Ensembl | 4,713 nt | ||
| mRNA |
stxbp1b-202
(1)
|
Ensembl | 5,245 nt |
Interactions and Pathways
No data available
Plasmids
No data available